Canonical Allele Identifier: CA343130555

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169498975T>A (hg19) ; chr1:g.169529737T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169529737T>A , CM000663.2:g.169529737T>A	GRCh38
NC_000001.10:g.169498975T>A , CM000663.1:g.169498975T>A	GRCh37
NC_000001.9:g.167765599T>A	NCBI36
NG_011806.1:g.61795A>T , LRG_553:g.61795A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.5290A>T MANE Select	ENSP00000356771.3:p.Met1764Leu
ENST00000367796.3:c.5305A>T	ENSP00000356770.3:p.Met1769Leu
ENST00000367797.7:c.5290A>T	ENSP00000356771.3:p.Met1764Leu
NM_000130.4:c.5290A>T , LRG_553t1:c.5290A>T	NP_000121.2:p.Met1764Leu
XM_017000660.2:c.4879A>T	XP_016856149.1:p.Met1627Leu
NM_000130.5:c.5290A>T MANE Select	NP_000121.2:p.Met1764Leu